🧬 Category

genomics

238 papers

Genomics is the study of an organism's complete set of DNA, offering a deep dive into the biological instructions that shape life. This field explores how genetic information influences traits, health, and evolution, moving beyond single genes to understand the complex interplay within entire genomes. From uncovering the roots of disease to mapping biodiversity, genomics provides the foundational data for many modern medical breakthroughs.

At Gist.Science, we process every new preprint in this category as it appears on bioRxiv, ensuring you stay ahead of the curve. Each paper is accompanied by both a clear, plain-language overview and a detailed technical summary, making cutting-edge research accessible to everyone regardless of their background. Below are the latest papers in genomics, freshly summarized and ready for you to explore.

Genomic resources of Ascidiella aspersa and comparative analysis across tunicates reveal class-level features and evolutionary diversification

This study establishes high-quality genomic and transcriptomic resources for the invasive tunicate *Ascidiella aspersa* and conducts a comprehensive comparative analysis across 35 other tunicate species to reveal class-level genomic features, evolutionary diversification patterns, and a new phylogenetic hypothesis, all accessible through the newly constructed TUNOME database.

Shito, T. T., Jayakumar, V., Nishitsuji, K., Nishitsuji, Y., Shimon, K., Miyasaka, S. O., Oka, K., Sakakibara, Y., Hotta, K.2026-04-09🧬 genomics

Transposable element disruption of a second thyroglobulin-like gene confers Vip3Aa resistance in Helicoverpa armigera

This study identifies a second thyroglobulin-like gene, HaVipR2, as a novel mediator of Vip3Aa resistance in *Helicoverpa armigera*, demonstrating that a ~16 kb transposable element insertion disrupts this gene to confer high-level resistance and highlighting the critical role of long-read sequencing in detecting such adaptive mutations.

Bachler, A., Walsh, T. K., Andrews, D., Williams, M., Tay, W. T., Gordon, K. H., James, B., Fang, C., Wang, L., Wu, Y., Stone, E. A., Padovan, A.2026-04-09🧬 genomics

Over-representation of sperm-associated deleterious mutations across wild and ex situ cheetah (Acinonyx jubatus) populations

This study analyzes whole-genome data from wild and captive cheetahs to reveal that deleterious mutations are significantly enriched in sperm-related genes, likely contributing to poor sperm quality, while confirming that captive breeding programs have successfully maintained genetic diversity comparable to wild populations.

Peers, J. A., Sibley, H. R., Armstrong, E. E., Crosier, A. E., Nash, W. J., Koepfli, K.-P., Haerty, W.2026-04-09🧬 genomics

Systemic mutagen exposures reported by normal kidney cell genomes

By analyzing single-molecule duplex sequencing data from normal kidney and blood samples across 10 countries, researchers discovered that kidney proximal tubule cells accumulate high levels of somatic mutations from both known exogenous carcinogens, such as aristolochic acids, and unidentified systemic mutagens, revealing these cells as highly sensitive sentinels for detecting widespread environmental exposures.

Wang, Y., Knight, W., Ferreiro-Iglesias, A., Abedi-Ardekani, B., Pham, M. H., Moody, S., Hooks, Y., Abascal, F., Nunn, C., Fitzgerald, S., Cattiaux, T., Gaborieau, V., Fukagawa, A., Jinga, V., Rascu (…)2026-04-09🧬 genomics

Benchmarking SNP-Calling Accuracy Against Known Citrus Pedigrees Reveals Pangenome Advantages Over Linear References

This study demonstrates that while graph-based pangenomes and linear references yield similar Mendelian inheritance error rates, pangenome approaches significantly improve the reconstruction of parental haplotype blocks in citrus breeding, offering a superior framework for benchmarking SNP-calling accuracy in non-model systems by mitigating reference bias in diverged genomic regions.

Kuster, R. D., Sisler, P., Sandhu, K., Yin, L., Niece, S., Krueger, R., Dardick, C., Keremane, M., Ramadugu, C., Staton, M. E.2026-04-09🧬 genomics

Evolutionary transfer learning enables organism-wide inference of mammalian enhancer landscapes

This study introduces STEAM, an evolutionary transfer learning framework that leverages single-cell chromatin accessibility data from mouse development and synteny-supervised training across 241 mammalian genomes to overcome data limitations and enable accurate, genome-wide inference of enhancer landscapes across diverse cell types and species.

Qiu, C., Daza, R. M., Welsh, I. C., Patwardhan, R. P., Martin, B. K., Li, T., Yang, S., Kempynck, N., Taylor, M. L., Fulton, O., Le, T.-M., O'Day, D. R., Lalanne, J.-B., Domcke, S., Murray, S. A., Aer (…)2026-04-08🧬 genomics

Endogenous mutational mechanisms and metabolic context shape endometrial cancer

This study analyzes deep whole-genome sequencing data from 440 endometrial tumors to reveal how endogenous mutational mechanisms, retrotransposition activity, and host metabolic factors like BMI distinctively shape the genomic architecture and evolutionary trajectories of molecular subtypes, offering a mutagenesis-centric framework for improved risk stratification and therapeutic strategies.

Sang, J., Zhang, M., Chavez, S., Kim, Y., Veith, T., Zhou, W., Luo, W., Miranda, A. M., Luebeck, J., Wang, G., Zhu, B., Bafna, V., Chanock, S. J., Zhang, T.2026-04-07🧬 genomics